Suchergebnisse - "Seong, Moon-Woo"

PubPharm (339)

71

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy

enthalten in: Molecular genetics & genomic medicine | 2021

von Park, J. | Ko, J. | Kim, M. | +5

72

Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID-19 progression

enthalten in: Proteomics | 2021

von Lee, J. | Han, D. | Kim, S. | +13

73

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2021

von Jang, M. | Oh, D. | Yi, E. | +41

74

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

enthalten in: Experimental dermatology | 2021

von Kim, H. | Song, H. | Kim, K. | +5

75

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients : A Multicenter Cohort Study

enthalten in: Cancers | 2021

von Park, K. | Lee, W. | Seong, M. | +7

76

Molecular basis and diagnosis of thalassemia

enthalten in: Blood research | 2021

von Lee, J. | Cho, S. | Park, S. | +1

77

Diagnosis for Pheochromocytoma and Paraganglioma : A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force

enthalten in: Endocrinology and metabolism (Seoul, Korea) | 2021

von Ku, E. | Kim, K. | Kim, J. | +22

78

FMS-like Tyrosine Kinase 3-Internal Tandem Duplication Allele Concentrations Should Be Determined in a Mutation-Type-Specific Manner

enthalten in: Clinical chemistry | 2021

von Kim, M. | Shin, H. | Oh, H. | +5

79

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping : application in various diseases

enthalten in: European journal of human genetics : EJHG | 2021

von Lee, J. | Lee, K. | Song, H. | +6

80

Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia

enthalten in: The Korean journal of internal medicine | 2021

von Han, H. | Byun, J. | Shin, D. | +11